Quantitative differentiation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability

Accurate predictions of the pathogenicity of mutations associated with genetic diseases are key to the success of precision medicine. Inherited missense mutations in the myocilin (MYOC) gene, within its olfactomedin (OLF) domain, constitute the strongest genetic link to primary open-angle glaucoma v...

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Detalles Bibliográficos
Autores principales: Scelsi, Hailee F., Hill, Kamisha R., Barlow, Brett M., Martin, Mackenzie D., Lieberman, Raquel L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9844228/
https://www.ncbi.nlm.nih.gov/pubmed/36579626
http://dx.doi.org/10.1242/dmm.049816

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9844228/
https://www.ncbi.nlm.nih.gov/pubmed/36579626
http://dx.doi.org/10.1242/dmm.049816

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